A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies

Eitemau Tebyg

• Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
  gan: Nesbit, M, et al.
  Cyhoeddwyd: (2004)
• Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
  gan: Zahirieh, A, et al.
  Cyhoeddwyd: (2005)
• Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
  gan: Hampson, G, et al.
  Cyhoeddwyd: (2003)
• Clinical case seminar: Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
  gan: Zahirieh, A, et al.
  Cyhoeddwyd: (2005)
• A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
  gan: Gaynor, K, et al.
  Cyhoeddwyd: (2009)